Ngaba wakha weva ngeSifo seRefsum? Makhe sithethe ngesi sifo singaqhelekanga!

Ngaba wakha weva ngento ebizwa ngokuba yi-'Refsum Disease'? Mhlawumbi eli gama litsha kancinci kubantu abaninzi. Kuba liyinto engaqhelekanga kakhulu, oko kukuthi, isifo semfuza esingafane sibonwe. Kodwa kubaluleke kakhulu ukuba nolwazi oluncinci ngezinto ezinje. Namhlanje, siza kuthetha ngeRefsum Disease ngokulula, ngendlela onokuyiqonda.

Yintoni kanye kanye iRefsum Disease?

Ngamafutshane, isifo seRefsum sisifo semfuza esichaphazela amalungu amabini ahlukeneyo. Esinye sisifo se-Infantile Refsum Disease , kwaye esinye sisifo se-Adult Refsum Disease . Zombini ziphantsi kweqela elikhulu lezifo ezibizwa ngokuba yi-"Peroxisomal disorders." Okwenzekayo koku kukuba ngenxa yotshintsho oluthile (esilubiza ngokuba yi-"mutations") kwiijini emzimbeni wethu, ezinye iintlobo zamafutha azinakwahlulwa ngokufanelekileyo, oko kukuthi, azinakwetyiswa. Ukuba unale meko, umzimba wakho ulahlekelwa zii-enzymes ezinceda ekuqhekekeni uhlobo lwamafutha olubizwa ngokuba yi-"Phytanic acid." Okwenzekayo kukuba i-"Phytanic acid" iqala ukuqokelelana emzimbeni. Cinga ngayo njengenkunkuma encinci endlwini yethu kwaye ibangela iingxaki.

Yintoni umahluko phakathi kweRefsum yabantu abadala kunye neRefsum yosana?

Kuzo zombini iintlobo zesifo seRefsum, unokubona ukulahleka kombono kunye nokuqokelelwa kwe-`(Phytanic acid)` emzimbeni endikukhankanyileyo ngaphambili. Kodwa ezi meko zimbini zenzeka ngenxa yotshintsho (`(ukuguqulwa)`) kwiijini ezimbini ezahlukeneyo ngaphambi kokuba sizalwe.

• Isifo se-Infantile Refsum: Esi sesinye seziganeko ezibizwa ngokuba yi-Zellweger spectrum disorders. Sibangela iimpawu kwiintsana nakubantu abancinci. Umzekelo, i-floppy muscle tone , ukungondleki kakuhle, ukuxhuzula , ukulibaziseka kokukhula , kunye nesifo sesibindi . I-Infantile Refsum yimeko embi kakhulu kune-Refsum yabantu abadala. Ixesha lokusinda kweentsana ezinale meko linokwahluka, kodwa ekugqibeleni linokuba yingozi.

• Isifo se-Refsum yabantu abadala: Oku kudla ngokubonakala ebuntwaneni okanye kamva. Ngokuyintloko kubangela ukulahleka kokubona , ukuphelelwa livumba , ukungaziva okanye ubuthathaka kwimilenze , kunye nokulahlekelwa kukuva . Ngokungafaniyo ne-Refsum yosana, oku akuchaphazeli ingqondo. Ke ngoko, ukuxhuzula okanye ukulibaziseka kokukhula akuqhelekanga ukubonwa. Nangona kunjalo, kukho umngcipheko weengxaki ezinkulu zentliziyo kamva ebomini.

Ixhaphake kangakanani isifo seRefsum?

Isifo seRefsum sisifo esingaqhelekanga kakhulu . Isifo seRefsum sosana senzeka kumntu omnye kwikhulu lamawaka. Isifo seRefsum yabantu abadala sinqabile nangakumbi, sisenzeka kumntu omnye kwisigidi. Ngoko ungacinga ukuba oku kunqabile kangakanani.

Zithini iimpawu zesifo seRefsum?

Iimpawu zesifo seRefsum ziyahluka ngokuxhomekeke kwiminyaka oqala ngayo ukuva iimpawu.

Ukubuyela kwiNtsana

Ukuba umntwana wakho unesifo sikaRefsum, usenokuba buthathaka kakhulu xa ezalwa, ngokungathi akaphili. Usenokuba nobunzima bokuncancisa . Iimpawu zakhe zixhomekeke kubukhulu besifo. Usenokuba nokuxhuzula, okanye usenokuba neengxaki kwezi zitho:

• Izintso (`(Izintso)`)
• Isibindi (`(Isibindi)`)
• Amathambo (ingakumbi amathambo amade)

Iintsana ezinezifo ezinzima zesifo ngamanye amaxesha zinokufa kunyaka wokuqala wobomi.

Abantwana abadala banokuhlangabezana nezinto ezifana nezi:

• Ukukhubazeka kophuhliso
• Ukukhula okubi
• Iingxaki zokubona nokuva

Ukurhoxiswa kweMali yabantu abadala

Uphawu lokuqala lwesifo seRefsum sabantu abadala ludla ngokuba kukulahlekelwa yimbono yasebusuku . Oku kubangelwa yimeko ebizwa ngokuba yi-`(Retinitis pigmentosa)`. Umntwana wakho unokubona oku kulahlekelwa yimbono yasebusuku kwiminyaka yakhe yobutsha, malunga neminyaka elishumi elinesithathu okanye elishumi elinesine. Okanye usenokungabonakalisi zimpawu de abe ngumntu omdala. Njengoko ekhula, le meko ye-`(Retinitis pigmentosa)` inokubangela ukulahlekelwa yimbono engaphandle kwaye ekugqibeleni ikhokelele ekubeni yimfama ngokupheleleyo.

Ezinye iimpawu zeRefsum zabantu abadala ziquka:

• Ukulahlekelwa yimvakalelo yokuvumba (`(Anosmia)`)
• Ukungaziva mnandi okanye ukutsha kwamalungu
• Ukulahlekelwa kukuva
• Iingxaki zebhalansi
• Ichthyosis (amabala arhabaxa, anamaxolo eluswini)
• Umbono ofipheleyo, ngokungathi kukho ii-cataracts emehlweni (`(ii-Cataracts)`)
• Isifo sentliziyo esibi kakhulu, umzekelo, ukubetha kwentliziyo okungahambelaniyo (i-arrhythmia) okanye ukungaphumeleli kwentliziyo (ukungaphumeleli kwentliziyo)

Zithini iingxaki zesifo seRefsum?

Ukubuyela umva kwiintsana yimeko enzima kakhulu neyenzakalisayo . Abantwana baneengxaki ezinkulu zokutya, ukuxhuzula, ukubona nokuva. Ubomi babo bufutshane ngenxa yeengxaki zokuphefumla.

Kwi-Refsum yabantu abadala, ukubona kwakho kuyawohloka kancinci kancinci ngokuhamba kwexesha. Ubuthathaka, ukulahlekelwa zimvakalelo, kunye neengxaki zokulinganisela nazo ziyanda kancinci kancinci. Ngamanye amaxesha, ngexesha loxinzelelo lomzimba, njengaxa unesifo esikhulu okanye utyando , amanqanaba e-`(Phytanic acid)` endikhankanyileyo anokuba phezulu kakhulu. Emva koko ukubetha kwentliziyo kunokuba yinto engaqhelekanga okanye kubekho ubuthathaka obukhulu. Ukuba akunyangwa, oku kuphazamiseka kwesingqisho sentliziyo (`(Arrhythmias)`) kunokuba yingozi ebomini.

Yintoni ebangela isifo seRefsum?

Isifo se-Refsum sibangelwa lutshintsho (ukuguqulwa) kwijini onayo ekuzalweni. Ungalufumana olu tshintsho kumama wakho, kutata wakho, okanye kubo bobabini.

Kukho ii-genes ezingaphezu kweshumi elinesibini ezinokubangela i-Refsum yosana. Kwezi, ezona zixhaphakileyo zezi `(PEX1)` (malunga nama-60%), `(PEX6)` (malunga ne-15%), `(PEX12)` (malunga ne-7.6%) kunye `(PEX26)` (malunga ne-4.2%).

Isifo se-Adult Refsum sikwabangelwa kukuguquka kwezakhi zofuzo okubakho ekuzalweni kwaye kudluliselwe kwizizukulwana. Malunga nabantu abalithoba kwabalishumi abanesifo se-Refsum abadala banokuguquka kwezakhi zofuzo `(PHYH)`. Uninzi lwabanye lunokuguquka kwezakhi zofuzo `(PEX7)`.

Cinga ngayo njengomzi-mveliso omncinci emzimbeni wethu apho umatshini othile obalulekileyo uqhekeka khona. Iingxaki ezinje ngezi zenzeka xa ezo matshini zibizwa ngokuba zii-genes zingasebenzi kakuhle.

Isifo seRefsum sifunyanwa njani?

Oogqirha basebenzisa iimvavanyo ezahlukeneyo ukuxilonga isifo seRefsum, kuxhomekeke kwiminyaka yakho. Banokwenza novavanyo lwemfuza ukukhangela utshintsho lwemfuza olubangela isifo seRefsum.

• Kwi-Refsum yeentsana: Uvavanyo oluqhelekileyo lolokulinganisa ii-fatty acids ezinemixokelelwane emide kakhulu (`(ii-fatty acids ezinemixokelelwane emide kakhulu)`), i-phytanic acid (`(i-phytanic acid)`), kunye ne-pristanic acid (`(i-pristanic acid)`).
• Kwabantu abadala iRefsum: Ugqirha wakho angaqala ngokuthatha isampuli yegazi aze avavanye amanqanaba akho e-`(Phytanic acid)`.

Isifo seRefsum sinyangwa njani?

Unyango lwe-Infantile Refsum

Ukuba umntwana wakho unesifo seRefsum sosana, ugqirha uya kugqiba ngonyango olusekelwe kwiimpawu zomntwana. Oku kungabandakanya izinto ezifana nezi:

• Ukondla ngetyhubhu
• Ukususwa kweCataract (`(Ukususwa kweCataract)`)
• Iiglasi
• Izixhobo zokuncedisa ukuva (`(Izixhobo zokuncedisa ukuva)`)
• Iivithamini
• Amayeza okulwa nokuxhuzula
• Iinkonzo ezahlukeneyo zonyango kunye nokungenelela kwangethuba kokulibaziseka kophuhliso (`(iinkonzo zonyango/ukungenelela kwangethuba)`)

Unyango lwe-Refsum yabantu abadala

Xa unyanga isifo seRefsum sabantu abadala, kunokufuneka unciphise ukutya okunyusa amanqanaba e-phytanic acid emzimbeni wakho. Umzekelo:

• Inyama yenkomo kunye nemvana
• Iimveliso zederi
• Iintlanzi ezinamafutha, njenge-cod, i-tuna, okanye i-haddock.

Abanye abantu banokufuna unyango olubizwa ngokuba yi-"Plasmapheresis" ukulawula ukuqokelelwa kwe-"Phytanic acid". Kwi-"Plasmapheresis", ugqirha uthatha inxalenye yegazi lakho, ahluze i-"Phytanic acid" egqithisileyo, aze akubuyisele elo gazi. Nangona olu nyango lunzima kancinci, luluncedo kakhulu kwabanye abantu.

Ngaba isifo seRefsum sifuna unyango lwesifo sentliziyo?

Kubantu abadala abanesifo seRefsum, ukuba ngequbuliso ubetha ukubetha kwentliziyo ngendlela engaqhelekanga, unokufuna unyango lokulawula isantya sentliziyo yakho. Oku kungabandakanya:

• Iintlobo zamayeza:Amayeza anje nge-`(Beta-blockers)`, `(Calcium channel blockers)`, okanye `(Anticoagulants)` anciphisa ukujiya kwegazi anikwa ukulawula isantya sentliziyo okanye ukunciphisa umngcipheko westroke.
• I-Cardioversion: Ukunikezelwa komothuko wombane olawulwayo ukubuyisela indlela eqhelekileyo yokubetha kwentliziyo.
• I-ICD (i-ICD) efakelwa phantsi kwesikhumba sakho. Ijonga kwaye ilawula ukubetha kwentliziyo yakho.
• Ukususwa kwe-catheter: Le yinkqubo engaphantsi kakhulu ebandakanya ukonakalisa ngabom izicwili zentliziyo ezinesifo ukuze kuthintelwe ukubetha kwentliziyo okungaqhelekanga.

Yintoni enokulindelwa ngumntu onesifo seRefsum?

Abantwana abane-Refsum yosana badla ngokuba nokulibaziseka okukhulu ekukhuleni kwaye badinga ukungenelela okukhulu kwezonyango. Okubuhlungu kukuba, nangona befumana unyango olungcono, ubukhali kunye nohlobo lwesi sifo kunciphisa ubomi baba bantwana.

Abantu abaninzi abaneRefsum yabantu abadala bayakwazi ukulawula iimpawu zabo ngokunciphisa ukutya okune-`(iPhytanic acid)` eninzi. Ngonyango, iimpawu ezifana nolusu olomileyo kunye nokungaziva kakuhle zihlala ziphela. Nangona kunjalo, usenokuphila neengxaki zokubona okanye zokuva ixesha elide. Abanye abantu basenokungaphindi bafumane ivumba labo elilahlekileyo.

Ungayinciphisa njani ingozi yesifo seRefsum?

Ngenxa yokuba isifo seRefsum sisifo esibangelwa lufuzo, akukho ndlela yokusithintela.

Ukuba unesifo seRefsum, okanye ucinga ukuba unokuba ngumxhasi wesifo, ungacinga ngovavanyo lwemfuza. Uvavanyo lwemfuza lunokuchonga utshintsho lwemfuza olubangela isifo seRefsum. Umcebisi wemfuza unokukunceda uqonde iziphumo zovavanyo aze achaze amathuba okuba abantwana bakho bafumane esi sifo.

Ndimele ndibuze ntoni kugqirha wam?

Ukuba unesifo seRefsum, okanye ukrokrela ukuba unaso, ungabuza ugqirha wakho imibuzo efana nale:

• Ziziphi iimpawu zokuqala zesifo seRefsum?
• Zeziphi iimvavanyo ezisetyenziswayo ukufumanisa isifo seRefsum?
• Ziziphi iindlela zonyango lwesifo seRefsum?
• Ngaba kufuneka ndifumane uvavanyo lwemfuza lwesifo seRefsum?
• Ngawaphi amathuba okuba umntwana wam afumane isifo seRefsum?

Kuqhelekile ukuziva usoyika xa ufumanisa ukuba wena okanye umntwana wakho unesifo esingaqhelekanga esibangelwa lufuzo. Nangona kunjalo, ukufumana ukuxilongwa linyathelo lokuqala lokuqonda okwenzekayo.

Ngamafutshane (Umyalezo Wokuya Ekhaya)

Isifo seRefsum sisifo esingaqhelekanga nesintsonkothileyo. Nangona kunjalo, xa uxilongwa ngokufanelekileyo kwaye unyangwa ngokukhawuleza,Ngonyango, ingakumbi kwisifo seRefsum sabantu abadala, kunokwenzeka ukulawula iimpawu nokuphila ubomi obulungileyo. Nangona imeko yeRefsum yosana inzima ngakumbi, kubaluleke kakhulu ukunika umntwana unonophelo oluphezulu kunye nenkxaso ayidingayo.

Ukuba unemibuzo engaphezulu malunga noku, okanye ukuba ukrokrela ukuba kukho umntu kusapho lwakho onale mpawu, ungaze ungathandabuzi ukufuna ingcebiso kagqirha. Kungakunceda kakhulu ukujoyina amaqela enkxaso anceda abantu abanezi zifo zingaqhelekanga kunye neentsapho zabo. Nangona amava omntu wonke ahlukile, ukuthetha nabanye kunokukunceda uzive ungedwa.

Isifo seRefsum , isifo seRefsum, izifo zemfuza, i-phytic acid, iingxaki zokubona, ukukhubazeka kokuva, iRefsum yosana, iRefsum yomntu omdala